Canonical Allele Identifier: CA631044783

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2040680
• ClinVar RCV Id: RCV002890725
• dbSNP Id: rs1357183986
• gnomAD v2: 19-1399777-C-T
• gnomAD v3: 19-1399778-C-T
• gnomAD v4: 19-1399778-C-T
• MyVariant Identifiers: chr19:g.1399777C>T (hg19) ; chr19:g.1399778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399778C>T , CM000681.2:g.1399778C>T	GRCh38
NC_000019.9:g.1399777C>T , CM000681.1:g.1399777C>T	GRCh37
NC_000019.8:g.1350777C>T	NCBI36
NG_009785.1:g.6776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+15G>A MANE Select	ENSP00000252288.1:n.327+15G>A
ENST00000447102.8:c.327+15G>A	ENSP00000403536.2:n.327+15G>A
ENST00000591788.3:c.10+15G>A
ENST00000640762.1:c.258+15G>A	ENSP00000492031.1:n.258+15G>A
ENST00000252288.6:c.327+15G>A	ENSP00000252288.1:n.327+15G>A
ENST00000447102.7:c.327+15G>A	ENSP00000403536.2:n.327+15G>A
ENST00000591788.2:c.12+15G>A	ENSP00000466341.2:n.12+15G>A
NM_000156.5:c.327+15G>A	NP_000147.1:n.327+15G>A
NM_138924.2:c.327+15G>A	NP_620279.1:n.327+15G>A
NM_000156.6:c.327+15G>A MANE Select	NP_000147.1:n.327+15G>A
NM_138924.3:c.327+15G>A	NP_620279.1:n.327+15G>A